1. Genes and Genomic Entities
  2. SMARCA5

SMARCA5

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
OMIM: 603375, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SMARCA5 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • postnatal microcephaly
  • hypotonia
  • failure to thrive
Tags
  • gene-checked
Green SMARCA5 in Intellectual disability


Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual disability
    • postnatal microcephaly
    • hypotonia
    • failure to thrive
    Tags
    • gene-checked